A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349315



Internal ID21006868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11173060..11174698hg38UCSC Ensembl
chr2:11313186..11314824hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381639
hg191639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075542
Samples
Known GenesPQLC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349315
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer